Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34844 | chr1 | 11157245 | G | T |
c.4376C>A
|
p.Ala1459Asp
|
- | 4.0 |
|
B | |
| 26465 | chr1 | 11157252 | CCCACTCGTGCAGTTTCTCATA | C |
c.4348_4368del
|
p.Tyr1450_Trp1456del
|
- | 3.0 |
|
B | |
| 3816 | chr1 | 11157256 | CTCGTGCAGTTTCTCATACCAG | C |
c.4344_4364del
|
p.Tyr1450_Trp1456del
|
- | 3.0 |
|
B | |
| 11588 | chr1 | 11157281 | G | T |
c.4340C>A
|
p.Ala1447Asp
|
- | 3.0 |
|
B | |
| 3242 | chr1 | 11167457 | T | A |
c.4314A>T
|
p.Lys1438Asn
|
- | 3.0 |
|
B | |
| 28447 | chr1 | 11167480 | C | T |
c.4291G>A
|
p.Gly1431Arg
|
3.0 |
|
B | ||
| 30685 | chr1 | 11209362 | C | A |
c.3751G>T
|
p.Glu1251Ter
|
- | 3.0 |
|
B | |
| 8922 | chr1 | 11209443 | C | G |
c.3670G>C
|
p.Asp1224His
|
- | 3.0 |
|
B | |
| 29786 | chr1 | 11209470 | G | C |
c.3655-12C>G
|
-
|
- | 3.0 |
|
B | |
| 22817 | chr1 | 11212326 | G | A |
c.3547C>T
|
p.Gln1183Ter
|
- | 3.0 |
|
B | |
| 23415 | chr1 | 11212359 | T | A |
c.3514A>T
|
p.Thr1172Ser
|
- | 3.0 |
|
B | |
| 9526 | chr1 | 11216197 | A | G |
c.3068T>C
|
p.Val1023Ala
|
- | 3.0 |
|
B | |
| 12494 | chr1 | 11230920 | C | G |
c.2779+5G>C
|
-
|
- | 3.0 |
|
B | |
| 11635 | chr1 | 11232497 | TCAACC | T |
c.2448_2452del
|
p.Trp816Ter
|
- | 3.0 |
|
B | |
| 10652 | chr1 | 11233463 | G | A |
c.2356C>T
|
p.Pro786Ser
|
- | 3.0 |
|
B | |
| 5418 | chr1 | 11240443 | TGCATAAGGACCAGGGACA | T |
c.1628_1645del
|
p.Leu543_Met548del
|
- | 3.0 |
|
B | |
| 34993 | chr1 | 11241645 | G | T |
c.1449C>A
|
p.Phe483Leu
|
- | 3.0 |
|
B | |
| 10434 | chr1 | 11243121 | C | T |
c.1405G>A
|
p.Ala469Thr
|
2.0 |
|
B | ||
| 18823 | chr1 | 11243286 | G | A |
c.1240C>T
|
p.Gln414Ter
|
- | 3.0 |
|
B | |
| 32256 | chr1 | 11247610 | C | A |
c.1225+15G>T
|
-
|
- | 3.0 |
|
B |